rs1566411552

This variant is located in the PPP2R3C gene.

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ClinVar annotation

Pathogenic★☆☆☆

2 submitters4 publications

Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy; Spermatogenic failure 36

About PPP2R3C

This gene encodes a regulatory subunit of the serine/threonine phosphatase, protein phosphatase 2. This protein is localized to both nuclear and cytoplasmic regions depending on cell cycle phase. Homozygous conditional knockout mice for this gene exhibit reduced numbers and impaired proliferation of immune system B cells. This protein may regulate the expression of the P-glycoprotein ATP-binding cassette transporter through its phosphatase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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